Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate FGFR1 disease C1845146 Biomarker 0.75 orphanet , disgenet
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate FGFR1 disease C1845146 GermlineCausalMutation 0.75 orphanet , disgenet
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate FGFR1 disease C1845146 GeneticVariation 0.75 orphanet , disgenet
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate FGFR1 disease C1845146 CausalMutation 0.75 orphanet , disgenet
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